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Clinical Features and Diagnostic Approach in Patients with Undervirilised External Male Genitalia

5a-Reductase Type 2 Deficiency. J Androl. 2008; 29:20-28. doi:10.2164/jandrol.107.002592 PMID:17609295 Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens). 2008;7(3):217-29. PMID:18694860 Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89(5):401-7. doi:10.1136/adc.2002.011312 PMID:15102623 Poncz M, Solowiejczyk D, Harpel B

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New insight into the rheumatoid vasculitis

Abstract

Vasculitis in rheumatoid arthritis (rheumatoid vasculitis, RV) has a heterogeneous clinical presentation that includes skin disorders, neuropathy, eye symptoms and systemic inflammation. Rheumatoid vasculitis is an unusual complication of longstanding, severe rheumatoid arthritis (RA).

While RA affects the body’s joints, vasculitis is a condition in which blood vessels become inflamed. Rheumatoid vasculitis occurs in approximately 2 to 5% of patients who have RA. The blood vessels most often involved are arteries that bring blood to the skin, nerves, and internal organs. Veins can also be involved. Rheumatoid vasculitis is skin condition that is a typical feature of RA, presenting as peripheral vascular lesions that are localized (purpura, cutaneous ulceration, and gangrene of the distal parts of the extremities). The cause of RV is unknown, but given the prominence of immune components and the pathologic changes in involved blood vessels, an autoimmune process is suggested. Compared to other forms of vasculitis, there has been relatively little research in recent years on the specific entity of RV. There is some evidence that the incidence of RV has decreased over the past several decades, perhaps because of a better treatment of the underlying RA. In the present review, we discuss the clinical features, laboratory tests, the pathogenesis of RV.

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Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two Cases

References Driscoll DA, Mennuti MT. Genetic defects and gene therapy. In: Spitzer AR, Ed. Intensive Care of the Fetus and Neonate. St. Louis: Mosby ; 1996; 164-177. Rios A, Furdon SA, Adams D, Clark DA. Recognizing the clinical features of trisomy 13 syndrome. Adv Neonatal Care 2004; 4(6): 332-343. Simpson JL, Elias S. Chromosomal abnormalities. In: Simpson JL, Elias S, Eds. Genetics in Obstetrics and Gynecology, 3rd ed. Philadelphia: WB Saunders. 2003; 3

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Analysis of Tuberculosis-Associated Immune Reconstitution Inflammatory Syndrome in HIV/TB Co-infected Patients During HAART

Abstract

Objectives To investigate the clinical features of tuberculosis (TB)-associated immune reconstitution inflammatory syndrome (TB-IRIS) in patients co-infected with HIV/TB or latent infection during highly active antiretroviral therapy (HAART).

Methods HIV-infected patients treated in the Third People’s Hospital of Shenzhen, China between March 2012 and March 2013 were recruited, and divided into 3 groups: 1) HIV/TB co-infection group (n = 50), 2) HIV/ MTB latent infection group (n = 50), and 3) HIV infection group (n = 50), with 12-month follow-up. Patients in the HIV/TB co-infection group were treated with HAART 2 weeks after TB therapy. Patients were assessed at different time-points.

Results The incidence and mortality rates of TB-IRIS were 40% and 10% in the HIV/TB co-infected patients, and 2% (and no mortality) in the HIV/MTB group. The HIV infected group did not display TB-IRIS or death. About 95% HIV/TB co-infected patients were 20-39 years old when TB-IRIS occurred, and 65% of the patients developed TB-IRIS 2 weeks after HAART. For the co-infection group, those with TB-IRIS (20/20, 100%) had fever, with a significantly higher incidence than those who did not develop TB-IRIS (6.7%, 2/30, P < 0.05). The patients with TB-IRIS in co-infection group displayed markedly higher clinical biochemical markers, acute phase reactants, increased CD4+ cell counts, and 2 log10-decreases of HIV RNA loads, compared with the patients not presenting with TB-IRIS (P < 0.05).

Conclusion HIV/TB co-infected patients presented with a high-risk of developing TB-IRIS during HAART treatment. Early diagnosis and treatment could decrease mortality rates in TB-IRIS.

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Severe Novel Influenza A (H1N1) in Shanghai: Clinical Features, Therapeutic Management and Risk Factors for Mortality

during pregnancy in the USA. Lancet 2009;374:451- 458. 6 Centers for Disease Control and Prevention. Hospitalized patients with novel influenza A (H1N1) virus infection-California, April- May, 2009. MMWR 2009;58:536-541. 7 Cui W, Zhao H, Lu X, Wen Y, Zhou Y, Deng B, et al. Factors associated with death in hospitalized pneumonia patients with 2009 H1N1 influenza in Shenyang, China. BMC Infect Dis 2010;31:145. 8 Mu YP, Zhang ZY, Chen XR, Xi XH, Lu YF, Tang YW, et al. Clinical features, treatments and prognosis of the

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Transient Ischemic Attack: Clinical Features and Outcome

Summary

A Transient Ischemic Attack (TIA) is a state of emergency and an independent risk factor for ischemic stroke. The social significance of the disease is determined, based on the probability of occurrence of subsequent cerebrovascular incidents and their frequency among groups. The purpose of the present study was to perform a comparative analysis of clinical features and outcome in patients with TIA for at least 24 months after onset had been registered, according to the pathogenesis and to ABCD (2) score. Two hundred and fifty-seven patients were monitored at the Neurology Clinic, First MHAT – Sofia after suffering an initial TIA. All subjects were studied using a clinical evaluation of pathogenetic mechanisms and an ABCD (2) algorithm. A diagnosis of TIA was confirmed by neuroimaging. The comparison between specific pathogenetic mechanisms demonstrated a statistically significant difference. Two TIA subgroups were involved – thromboembolic and cryptogenic (p<0.05). Also, according to the ABCD (2) score results, significant differences were found between groups at low (1-3) and high (6-7) risk, and those at intermediate (4-5) and high risk (p<0.01). Detailed investigation and assessment of patients with TIA are important concerning the prognostic outcome.

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An Investigation of the Relationship Between the Enos Gene Polymorphism and Diagnosed Migraine

, Grimaldi LM, Salani G, Valfrè W, Rivoiro C, Savi L, et al. Association between the tumor necrosis factor-α -308 G/A gene polymorphism and migraine. Neurology. 2004; 62(1): 141-143. 33. Rubino E, Fenoglio P, Gallone S, Govone F, Vacca A, De Martino P, et al. Genetic variants in the NOTCH4 gene influence the clinical features of migraine. J Headache Pain. 2013; 14(1): 28-32.

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Spontaneous Spondylodiscitis - Epidemiology, Clinical Features, Diagnosis and Treatment

REFERENCES 1. Fantoni M, Trecarichi EM, Rossi B, et al. Epidemiological and clinical features of pyogenic spondylodiscitis. Eur Rev Med Pharmacol Sci 2012;16(Suppl 2):2-7. 2. Hopkinson N, Stevenson J, Benjamin S. A case ascertainment study of septic discitis: clinical, microbiological and radiological features. QJM 2001;94:465-70. 3. Acosta FL, Galvez LF, Aryan HE, et al. Recent advances: infections of the spine. Curr Infect Dis Rep 2006;8:390-3. 4. Cottle L, Riordan T. Infectious spondylodiscitis. J Infect 2008;56:401-12. 5. Butler

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Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

SD, Lipshultz SE, Lowe AM, et al. Epidemiology and cause-specifi c outcome of hypertrophic cardiomyopathy in children: fi ndings from the Pediatric Cardiomyopathy Registry. Circulation. 2007;115:773-781. 12. Nugent AW, Daubeney PE, Chondros P, et al. Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study. Circulation. 2005;112:1332-1338. 13. Schwartz ML, Cox GF, Lin AE, et al. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996

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Clinical Features and Histopathological Spectrum in Adolescent Onset Nephrotic Syndrome in a Romanian Children Population

Abstract

Objectives of study: The adolescent population signifies the transitory period where the frequent occurrence of different histopathological lesions in patients with nephrotic syndrome (NS) is different from that seen in young children as well as that seen in adults. This study aimed to analyze the clinical features and histopathological spectrum of adolescent-onset NS. Material and methods: We retrospectively evaluated clinical features, biochemical investigations and histopathology of 103 children with idiopathic NS referred to the Pediatric Department, County Hospital of Târgu-Mureş. Fourteen patients with congenital-, infantil- and secondary NS were excluded from this study. Results: The patients were divided into 2 groups: in group A we included 69 patients diagnosed with NS diagnosed before 10 years-old, with a median age of 3.76±1.96 years, majority males (59.42%) and presenting the pure form of NS. On the other hand, in group B we included 20 adolescents having the median age at the onset of the disease 13.61±2.18 years, with equal distribution of the sexes and presenting the impure form in 65% of cases. The majority of the patients in both groups (68.11% and 70% respectively) responded to steroid therapy. The commonest histopathological subtype in both groups was focal segmental glomerulosclerosis. Conclusions: The incidence of nephrotic syndrome has increased in the last years. The impure form of NS is more frequent in the adolescents than in younger patients. Adolescents with impure and steroid-resistant NS at presentation have other lesions than minimal change disease. The early genetic diagnosis in NS is important for proper clinical management of the patients, prognosis and genetic counseling of the families.

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